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Comparison of evoked potentials across four related developmental encephalopathies.
Saby JN, Peters SU, Benke TA, Standridge SM, Swanson LC, Lieberman DN, Olson HE, Key AP, Percy AK, Neul JL, Nelson CA, Roberts TPL, Marsh ED. Saby JN, et al. Among authors: neul jl. J Neurodev Disord. 2023 Mar 4;15(1):10. doi: 10.1186/s11689-023-09479-9. J Neurodev Disord. 2023. PMID: 36870948 Free PMC article.
Complexities of Rett syndrome and MeCP2.
Samaco RC, Neul JL. Samaco RC, et al. Among authors: neul jl. J Neurosci. 2011 Jun 1;31(22):7951-9. doi: 10.1523/JNEUROSCI.0169-11.2011. J Neurosci. 2011. PMID: 21632916 Free PMC article. Review. No abstract available.
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Neul JL. Neul JL. Dis Model Mech. 2010 Mar-Apr;3(3-4):125-30. doi: 10.1242/dmm.005462. Dis Model Mech. 2010. PMID: 20212077 Free article. No abstract available.
Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome.
Wangler MF, Gonzaga-Jauregui C, Gambin T, Penney S, Moss T, Chopra A, Probst FJ, Xia F, Yang Y, Werlin S, Eglite I, Kornejeva L, Bacino CA, Baldridge D, Neul J, Lehman EL, Larson A, Beuten J, Muzny DM, Jhangiani S; Baylor-Hopkins Center for Mendelian Genomics; Gibbs RA, Lupski JR, Beaudet A. Wangler MF, et al. PLoS Genet. 2014 Mar 27;10(3):e1004258. doi: 10.1371/journal.pgen.1004258. eCollection 2014 Mar. PLoS Genet. 2014. PMID: 24676022 Free PMC article.
Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males.
del Gaudio D, Fang P, Scaglia F, Ward PA, Craigen WJ, Glaze DG, Neul JL, Patel A, Lee JA, Irons M, Berry SA, Pursley AA, Grebe TA, Freedenberg D, Martin RA, Hsich GE, Khera JR, Friedman NR, Zoghbi HY, Eng CM, Lupski JR, Beaudet AL, Cheung SW, Roa BB. del Gaudio D, et al. Among authors: neul jl. Genet Med. 2006 Dec;8(12):784-92. doi: 10.1097/01.gim.0000250502.28516.3c. Genet Med. 2006. PMID: 17172942 Free article.
113 results